Research & Literature

Intravitreal ranibizumab for choroidal neovascularization secondary to gyrate atrophy in a young patient: a multimodal imaging analysis.

Chatziralli I, Theodossiadis G, Emfietzoglou I, Theodossiadis P

European journal of ophthalmology 2015; (25(6)):e119-22.

Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis.

Tripathy K, Chawla R, Sharma YR, Gogia V

Oman journal of ophthalmology 2016; (9(2)):104-6 doi:10.4103/0974-620X.184529.

Clinical and Genetic Features of Choroideremia in Childhood.

Khan KN, Islam F, Moore AT, Michaelides M

Ophthalmology 2016; (123(10)):2158-65.

PHENOTYPING CHOROIDEREMIA AND ITS CARRIER STATE WITH MULTIMODAL IMAGING TECHNIQUES.

Ma KK, Lin J, Boudreault K, et al.

Retinal cases & brief reports 2017; (11 Suppl 1()):S178-S181 doi:10.1097/ICB.0000000000000419.

Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.

Aleman TS, Han G, Serrano LW, et al.

Ophthalmology 2017; (124(3)):359-373 doi:10.1016/j.ophtha.2016.10.022.

Spermidine Oxidation-Mediated Degeneration of Retinal Pigment Epithelium in Rats.

Ohashi K, Kageyama M, Shinomiya K, et al.

Oxidative medicine and cellular longevity 2017; (2017()):4128061 doi:10.1155/2017/4128061.

Reversal of cystoid macular edema in gyrate atrophy patients.

Heller D, Weiner C, Nasie I, et al.

Ophthalmic genetics 2017; (38(6)):549-554 doi:10.1080/13816810.2017.1301966.

Bilateral choroidal neovascularization associated with gyrate atrophy managed with intravitreal bevacizumab.

Inanc M, Tekin K, Teke MY

International ophthalmology 2018; (38(3)):1351-1355 doi:10.1007/s10792-017-0579-2.

Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy.

Piozzi E, Alessi S, Santambrogio S, et al.

European journal of ophthalmology 2017; (27(6)):e179-e183 doi:10.5301/ejo.5001010.

Fundus autofluorescence imaging in hereditary retinal diseases.

Pichi F, Abboud EB, Ghazi NG, Khan AO

Acta ophthalmologica 2018; (96(5)):e549-e561 doi:10.1111/aos.13602.

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.

Cui X, Jauregui R, Park KS, Tsang SH

Ophthalmic genetics 2018; (39(4)):512-516 doi:10.1080/13816810.2018.1474370.

Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.

Montioli R, Desbats MA, Grottelli S, et al.

Biochimica et biophysica acta. Molecular basis of disease 2018; (1864(11)):3629-3638 doi:10.1016/j.bbadis.2018.08.032.

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Zekušić M, Škaričić A, Fumić K, et al.

Biochemia medica 2018; (28(3)):030801 doi:10.11613/BM.2018.030801.

Inborn Errors of Metabolism: Gyrate Atrophy.

Tsang SH, Aycinena ARP, Sharma T

Advances in experimental medicine and biology 2018; (1085()):183-185 doi:10.1007/978-3-319-95046-4_37.

Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.

Çavdarlı C, Şahlı E, Çavdarlı B, Alp MN

Arquivos brasileiros de oftalmologia 2020; (83(2)):149-152 doi:10.5935/0004-2749.20200028.

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.

Jalali H, Najafi M, Khoshaeen A, et al.

European journal of ophthalmology 2021; (31(5)):NP23-NP26 doi:10.1177/1120672120921734.

Clinical application of ultra-widefield fundus autofluorescence.

Xu A, Chen C

International ophthalmology 2021; (41(2)):727-741 doi:10.1007/s10792-020-01609-9.

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.

Montioli R, Bellezza I, Desbats MA, et al.

Biochimica et biophysica acta. Proteins and proteomics 2021; (1869(1)):140555 doi:10.1016/j.bbapap.2020.140555.

Treatment of Intraretinal Cystic Spaces Associated With Gyrate Atrophy of the Choroid and Retina With Intravitreal Bevacizumab.

Elnahry AG, Aboulfotouh MR, Nassar GA

Journal of pediatric ophthalmology and strabismus 2020; (57(6)):400-406 doi:10.3928/01913913-20200813-01.

A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.

Magliyah M, Alsalamah AK, AlOtaibi M, Nowilaty SR

Ophthalmic genetics 2021; (42(2)):204-208 doi:10.1080/13816810.2020.1843185.

Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl.

Guan W, Wang G, Hu F, Peng X

BMC ophthalmology 2021; (21(1)):93 doi:10.1186/s12886-021-01862-1.

A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).

Balfoort BM, Buijs MJN, Ten Asbroek ALMA, et al.

Molecular genetics and metabolism 2021; (134(1-2)):96-116 doi:10.1016/j.ymgme.2021.07.010.

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.

Montioli R, Sgaravizzi G, Desbats MA, et al.

Frontiers in molecular biosciences 2021; (8()):695205 doi:10.3389/fmolb.2021.695205.

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.

Skorczyk-Werner A, Raczynska D, Wawrocka A, et al.

Intractable & rare diseases research 2021; (10(3)):202-206 doi:10.5582/irdr.2021.01042.

Gyrate Atrophy of the Choroid and Retina: A Review.

Elnahry AG, Elnahry GA

European journal of ophthalmology 2022; (32(3)):1314-1323 doi:10.1177/11206721211067333.

Obscured interdigitation zone at the early stage of gyrate atrophy: A case report.

Nitta K, Mukai R, Akiyama H

American journal of ophthalmology case reports 2022; (25()):101277 doi:10.1016/j.ajoc.2022.101277.

Regression of treatment-resistant gyrate atrophy-associated intraretinal cystic spaces using long-term diet restriction: A case report.

Elhusseiny AM, Haseeb A, Elnahry AG

European journal of ophthalmology 2023; (33(3)):NP1-NP4 doi:10.1177/11206721221085868.

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy.

Kaczmarczyk A, Baker M, Diddle J, et al.

Molecular genetics and metabolism reports 2022; (31()):100857 doi:10.1016/j.ymgmr.2022.100857.

A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.

da Palma MM, Ku C, Igelman AD, et al.

Ophthalmic genetics 2023; (44(2)):191-197 doi:10.1080/13816810.2022.2098986.

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Georgiou M, Robson AG, Jovanovic K, et al.

Ophthalmology 2023; (130(4)):413-422 doi:10.1016/j.ophtha.2022.11.015.

Liver-directed gene therapy for ornithine aminotransferase deficiency.

Boffa I, Polishchuk E, De Stefano L, et al.

EMBO molecular medicine 2023; (15(4)):e17033 doi:10.15252/emmm.202217033.

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Palmer E, Stepien KM, Campbell C, et al.

Orphanet journal of rare diseases 2023; (18(1)):265 doi:10.1186/s13023-023-02840-0.

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

Balfoort BM, Van Den Broeck F, Brands MM, et al.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2024; (262(11)):3589-3596 doi:10.1007/s00417-024-06540-8.

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Balfoort BM, Pampalone G, Ruiter JPN, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108542 doi:10.1016/j.ymgme.2024.108542.

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT.

Ju Y, Zong Y, Li X, et al.

Genes 2024; (15(8)) doi:10.3390/genes15081020.

Widefield Retinal Imaging in Gyrate Atrophy: Correlation of Structural, Biochemical, and Functional Characteristics.

Padhy SK, Parameswarappa DC, Sharma S, et al.

Ophthalmology. Retina 2025; (9(4)):392-401 doi:10.1016/j.oret.2024.10.016.

Combined intraocular and intravenous gene delivery for therapy of gyrate atrophy of the choroid and retina.

Dell'Aquila F, Di Cunto R, Marrocco E, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2025; (33(7)):2997-3005 doi:10.1016/j.ymthe.2024.10.019.

Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.

Díazceballos-García AL, Matsui R, Chairez Miranda MG, et al.

International ophthalmology 2024; (45(1)):1 doi:10.1007/s10792-024-03260-0.

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Balfoort BM, Van den Broeck F, Boon CJF, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12842 doi:10.1002/jimd.12842.

Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.

Puja A, Lu J, Du J

Advances in experimental medicine and biology 2025; (1468()):279-284 doi:10.1007/978-3-031-76550-6_46.

Inborn Errors of Metabolism: Gyrate Atrophy.

Hartung KJ, Tsang SH, Sharma T, Diaconita V

Advances in experimental medicine and biology 2025; (1467()):197-200 doi:10.1007/978-3-031-72230-1_37.

Retained cone-responses in homozygous start codon variant in KIZ-associated retinitis pigmentosa.

Kong MD, O'Connell M, Exinor A, et al.

Documenta ophthalmologica. Advances in ophthalmology 2026; (152(3)):409-414 doi:10.1007/s10633-025-10066-7.

Gyrate atrophy of the choroid and retina: a tertiary center experience.

Aktaşoğlu EÖ, Özdemir HB, Özmen MC, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Current Insight into Human Ornithine Aminotransferase: A Review.

Floriani F, Borri Voltattorni C, Montioli R

Proteins 2026; (94(8)):1431-1441 doi:10.1002/prot.70134.

Gyrate Atrophy of the Choroid and Retina Diagnosed in Adulthood With a Homozygous OAT Variant: A Case Report Highlighting the Need for Long-Term Care.

Taniai H, Mizobuchi K, Hara T, et al.

Case reports in ophthalmological medicine 2026; (2026()):8380205 doi:10.1155/crop/8380205.

Macular neovascularization in patients with Gyrate atrophy.

Bierbrier J, Ahmed Y, Ventresca M, et al.

Ophthalmic genetics 2026; 1-7 doi:10.1080/13816810.2026.2671407.

Early proteomic and metabolic signatures of liver and eye in OAT-deficient mice.

Puja A, Xu R, Mascari I, et al.

Experimental eye research 2026; (271()):111140 doi:10.1016/j.exer.2026.111140.